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Hyperlipidemia, familial combined, susceptibility to

MedGen UID:
864861
•Concept ID:
C4016424
•
Finding
Synonyms: COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO; HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO
 
OMIM®: 191523; 609708

Professional guidelines

PubMed

Familial hypercholesterolemia and young patients' thoughts on own condition and treatment.
Urke EB, Søbye S, Ellingvåg A, Langslet G, Retterstøl K, Wandel M
Patient Educ Couns 2019 May;102(5):1005-1012. Epub 2018 Dec 22 doi: 10.1016/j.pec.2018.12.025. PMID: 30606641
Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
Haralambos K, Whatley SD, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta DB, McDowell IF
Atherosclerosis 2015 May;240(1):190-6. Epub 2015 Mar 6 doi: 10.1016/j.atherosclerosis.2015.03.003. PMID: 25797312
Decreased susceptibility of low-density lipoproteins to in-vitro oxidation after dextran-sulfate LDL-apheresis treatment.
Leitinger N, Pirich C, Blazek I, Endler G, Sinzinger H
Atherosclerosis 1996 Oct 25;126(2):305-12. doi: 10.1016/0021-9150(96)05919-9. PMID: 8902156

Recent clinical studies

Etiology

Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.
Trinder M, Vikulova D, Pimstone S, Mancini GBJ, Brunham LR
Atherosclerosis 2022 Jan;340:35-43. Epub 2021 Dec 6 doi: 10.1016/j.atherosclerosis.2021.11.032. PMID: 34906840
Molecular mechanisms, prevalence, and molecular methods for familial combined hyperlipidemia disease: A review.
Taghizadeh E, Mardani R, Rostami D, Taghizadeh H, Bazireh H, Hayat SMG
J Cell Biochem 2019 Jun;120(6):8891-8898. Epub 2018 Dec 16 doi: 10.1002/jcb.28311. PMID: 30556165
Combined hyperlipidemia: familial but not (usually) monogenic.
Brahm AJ, Hegele RA
Curr Opin Lipidol 2016 Apr;27(2):131-40. doi: 10.1097/MOL.0000000000000270. PMID: 26709473
Hypertriglyceridemia.
Brahm A, Hegele RA
Nutrients 2013 Mar 22;5(3):981-1001. doi: 10.3390/nu5030981. PMID: 23525082Free PMC Article
Familial hypercholesterolemia and lipoprotein(a) hyperlipidemia as independent and combined cardiovascular risk factors.
Orsó E, Ahrens N, Kilalić D, Schmitz G
Atheroscler Suppl 2009 Dec 29;10(5):74-8. doi: 10.1016/S1567-5688(09)71816-1. PMID: 20129380

Diagnosis

Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.
Trinder M, Vikulova D, Pimstone S, Mancini GBJ, Brunham LR
Atherosclerosis 2022 Jan;340:35-43. Epub 2021 Dec 6 doi: 10.1016/j.atherosclerosis.2021.11.032. PMID: 34906840
Familial hypercholesterolemia and young patients' thoughts on own condition and treatment.
Urke EB, Søbye S, Ellingvåg A, Langslet G, Retterstøl K, Wandel M
Patient Educ Couns 2019 May;102(5):1005-1012. Epub 2018 Dec 22 doi: 10.1016/j.pec.2018.12.025. PMID: 30606641
Molecular mechanisms, prevalence, and molecular methods for familial combined hyperlipidemia disease: A review.
Taghizadeh E, Mardani R, Rostami D, Taghizadeh H, Bazireh H, Hayat SMG
J Cell Biochem 2019 Jun;120(6):8891-8898. Epub 2018 Dec 16 doi: 10.1002/jcb.28311. PMID: 30556165
Familial hypercholesterolemia and lipoprotein(a) hyperlipidemia as independent and combined cardiovascular risk factors.
Orsó E, Ahrens N, Kilalić D, Schmitz G
Atheroscler Suppl 2009 Dec 29;10(5):74-8. doi: 10.1016/S1567-5688(09)71816-1. PMID: 20129380
Genetics of familial combined hyperlipidemia and risk of coronary heart disease.
Shoulders CC, Jones EL, Naoumova RP
Hum Mol Genet 2004 Apr 1;13 Spec No 1:R149-60. Epub 2004 Feb 5 doi: 10.1093/hmg/ddh069. PMID: 14764618

Therapy

Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
Haralambos K, Whatley SD, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta DB, McDowell IF
Atherosclerosis 2015 May;240(1):190-6. Epub 2015 Mar 6 doi: 10.1016/j.atherosclerosis.2015.03.003. PMID: 25797312
Hypertriglyceridemia in the genomic era: a new paradigm.
Lewis GF, Xiao C, Hegele RA
Endocr Rev 2015 Feb;36(1):131-47. Epub 2015 Jan 2 doi: 10.1210/er.2014-1062. PMID: 25554923
Hypertriglyceridemia.
Brahm A, Hegele RA
Nutrients 2013 Mar 22;5(3):981-1001. doi: 10.3390/nu5030981. PMID: 23525082Free PMC Article
Novel drugs in familial combined hyperlipidemia: lessons from type 2 diabetes mellitus.
Brouwers MC, de Graaf J, van Greevenbroek MM, Schaper N, Stehouwer CD, Stalenhoef AF
Curr Opin Lipidol 2010 Dec;21(6):530-8. doi: 10.1097/MOL.0b013e32833ea9ec. PMID: 20739883
Clinical inquiries. When should we screen children for hyperlipidemia?
Misicko NE, St Anna L, Foliaco W
J Fam Pract 2006 Aug;55(8):723-5. PMID: 16882449

Prognosis

ANGPTL3 gene variants in subjects with familial combined hyperlipidemia.
Bea AM, Franco-Marín E, Marco-Benedí V, Jarauta E, Gracia-Rubio I, Cenarro A, Civeira F, Lamiquiz-Moneo I
Sci Rep 2021 Mar 26;11(1):7002. doi: 10.1038/s41598-021-86384-y. PMID: 33772079Free PMC Article
Translating genetic association of lipid levels for biological and clinical application.
Crone B, Krause AM, Hornsby WE, Willer CJ, Surakka I
Cardiovasc Drugs Ther 2021 Jun;35(3):617-626. Epub 2021 Feb 19 doi: 10.1007/s10557-021-07156-4. PMID: 33604704Free PMC Article
Performance of LDL-C calculated with Martin's formula compared to the Friedewald equation in familial combined hyperlipidemia.
Mehta R, Reyes-Rodríguez E, Yaxmehen Bello-Chavolla O, Guerrero-Díaz AC, Vargas-Vázquez A, Cruz-Bautista I, A Aguilar-Salinas C
Atherosclerosis 2018 Oct;277:204-210. Epub 2018 Jun 21 doi: 10.1016/j.atherosclerosis.2018.06.868. PMID: 29970255
TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study.
Coon H, Singh N, Dunn D, Eckfeldt JH, Province MA, Hopkins PN, Weiss R, Hunt SC, Leppert MF; NHLBI Family Heart Study
Atherosclerosis 2004 Jun;174(2):357-62. doi: 10.1016/j.atherosclerosis.2004.02.004. PMID: 15136067
Triglyceride, small, dense low-density lipoprotein, and the atherogenic lipoprotein phenotype.
Austin MA
Curr Atheroscler Rep 2000 May;2(3):200-7. doi: 10.1007/s11883-000-0021-4. PMID: 11122745

Clinical prediction guides

Familial combined hyperlipidemia is a polygenic trait.
Gill PK, Hegele RA
Curr Opin Lipidol 2022 Apr 1;33(2):126-132. doi: 10.1097/MOL.0000000000000796. PMID: 34690300
ANGPTL3 gene variants in subjects with familial combined hyperlipidemia.
Bea AM, Franco-Marín E, Marco-Benedí V, Jarauta E, Gracia-Rubio I, Cenarro A, Civeira F, Lamiquiz-Moneo I
Sci Rep 2021 Mar 26;11(1):7002. doi: 10.1038/s41598-021-86384-y. PMID: 33772079Free PMC Article
Translating genetic association of lipid levels for biological and clinical application.
Crone B, Krause AM, Hornsby WE, Willer CJ, Surakka I
Cardiovasc Drugs Ther 2021 Jun;35(3):617-626. Epub 2021 Feb 19 doi: 10.1007/s10557-021-07156-4. PMID: 33604704Free PMC Article
Genetics of Hypertriglyceridemia.
Dron JS, Hegele RA
Front Endocrinol (Lausanne) 2020;11:455. Epub 2020 Jul 24 doi: 10.3389/fendo.2020.00455. PMID: 32793115Free PMC Article
Unraveling the complex genetics of familial combined hyperlipidemia.
Suviolahti E, Lilja HE, Pajukanta P
Ann Med 2006;38(5):337-51. doi: 10.1080/07853890600865759. PMID: 16938803

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